Editors

Jordan Orange

Columbia University

Raffaele Badolato

University of Brescia

Impact

Case Report

04 May 2018

A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases

Tábata T. França

, 5 more and

Antonio Condino-Neto

5,480 views

18 citations

Case Report

18 July 2017

T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

Xavier Rios

, 3 more and

Nicholas L. Rider

3,584 views

2 citations

Case Report

19 June 2017

Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity

Laura Yeates

, 1 more and

Andrew R. Gennery

3,755 views

18 citations

Case Report

15 May 2017

Changes in Frequency and Activation Status of Major CD4+ T-Cell Subsets after Initiation of Immunosuppressive Therapy in a Patient with New Diagnosis Childhood-Onset Systemic Lupus Erythematosus

Saimun Singla

, 4 more and

George Makedonas

2,601 views

8 citations

Case Report

03 May 2017

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

Aidé Tamara Staines-Boone

, 7 more and

Saul Oswaldo Lugo Reyes

3,651 views

26 citations

Case Report

02 May 2017

Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?

Giusella M. F. Moscato

, 6 more and

Viviana Moschese

3,387 views

2 citations

Case Report

28 April 2017

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

Karina Gobin

, 8 more and

James Verbsky

10,319 views

30 citations

Case Report

19 April 2017

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome

Daniel Mettman

, 2 more and

Carol Saunders

3,419 views

15 citations

Case Report

17 March 2017

A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies

Juan Carlos Aldave Becerra

and

Enrique Cachay Rojas

3,421 views

13 citations

Case Report

13 March 2017

Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant

Michael Alexander Weinreich

, 2 more and

Joshua D. Milner

7,315 views

25 citations

Case Report

28 February 2017

DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation

Victoria R. Dimitriades

, 7 more and

Alexandra F. Freeman

5,130 views

21 citations

Case Report

27 February 2017

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

Paul Tuijnenburg

, 6 more and

Taco W. Kuijpers

2,607 views

7 citations

Case Report

10 February 2017

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Luis Alberto Pedroza

, 10 more and

Jordan S. Orange

2,965 views

12 citations

Case Report

23 September 2016

Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature

Joud Hajjar

, 3 more and

Jordan S. Orange

2,364 views

5 citations

Original Research

14 September 2016

Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency

Shahrzad Bakhtiar

, 6 more and

Ulrich Paetow

3,726 views

21 citations

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Meaningful Cases of Primary Immunodeficiencies

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